Katharina Simon1, Jochen B Geigl, Gunda Pristauz. 1. Abteilung für Gynäkologie, Universitätsklinik für Frauenheilkunde und Geburtshilfe, Medizinische Universität Graz, Österreich.
Abstract
BACKGROUND: germline mutations in the tumor suppressor genes BRCA1 and BRCA2 are identified in less than 50% of hereditary breast cancer cases. Besides BRCA1/2 further high-risk breast cancer genes are known; however they account only for a small fraction of inherited breast cancer cases. Most of them are involved in rare cancer predisposition syndromes. Moderate and low-risk breast cancer genes confer modest cancer risk up to 10% and may be more relevant due to polygenic inheritance. The majority of hereditary breast cancer cases are still caused by unknown genes. CLINICAL IMPLICATIONS: genetic testing of other known genes is not yet routinely performed in families tested negative for BRCA1/2-mutations, but can be recommended in special patients. In case of a calculated high-risk situation, participation in an early-detection screening program should be recommended. CONCLUSIONS: genetic susceptibility to breast cancer is heterogeneous and conferred by a large number of identified and yet undetected genes.
BACKGROUND: germline mutations in the tumor suppressor genes BRCA1 and BRCA2 are identified in less than 50% of hereditary breast cancer cases. Besides BRCA1/2 further high-risk breast cancer genes are known; however they account only for a small fraction of inherited breast cancer cases. Most of them are involved in rare cancer predisposition syndromes. Moderate and low-risk breast cancer genes confer modest cancer risk up to 10% and may be more relevant due to polygenic inheritance. The majority of hereditary breast cancer cases are still caused by unknown genes. CLINICAL IMPLICATIONS: genetic testing of other known genes is not yet routinely performed in families tested negative for BRCA1/2-mutations, but can be recommended in special patients. In case of a calculated high-risk situation, participation in an early-detection screening program should be recommended. CONCLUSIONS: genetic susceptibility to breast cancer is heterogeneous and conferred by a large number of identified and yet undetected genes.
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